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Insertion mutation

Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease

Stefania Zampieri, Ezio Bianchi, [ ... ], Andrea Dardis

A Novel Mutation in the RPE65 Gene Causing Leber Congenital Amaurosis and Its Transcriptional Expression In Vitro

Guoyan Mo, Qin Ding, [ ... ], Guohua Yin

Presence of C1-Inhibitor Polymers in a Subset of Patients Suffering from Hereditary Angioedema

Daniel Elenius Madsen, Søren Hansen, [ ... ], Johannes Jakobsen Sidelmann

The NPM1 Mutation Type Has No Impact on Survival in Cytogenetically Normal AML

Friederike Pastore, Philipp A. Greif, [ ... ], Karsten Spiekermann

Molecular Pathology of Rare Bleeding Disorders (RBDs) in India: A Systematic Review

Bipin P. Kulkarni, Sona B. Nair, [ ... ], Kanjaksha Ghosh

Complex Analysis of Urate Transporters SLC2A9, SLC22A12 and Functional Characterization of Non-Synonymous Allelic Variants of GLUT9 in the Czech Population: No Evidence of Effect on Hyperuricemia and Gout

Olha Hurba, Andrea Mancikova, [ ... ], Blanka Stibůrková

First Report of a Deletion Encompassing an Entire Exon in the Homogentisate 1,2-Dioxygenase Gene Causing Alkaptonuria

Mohammad Zouheir Habbal, Tarek Bou-Assi, [ ... ], Farid F. Chehab

Wolfram Syndrome in the Japanese Population; Molecular Analysis of WFS1 Gene and Characterization of Clinical Features

Kimie Matsunaga, Katsuya Tanabe, [ ... ], Yukio Tanizawa

Prognostic Value Analysis of Mutational and Clinicopathological Factors in Non-Small Cell Lung Cancer

Chenguang Li, Ligang Hao, [ ... ], Changli Wang

Phenotypes of Campylobacter jejuni luxS Mutants Are Depending on Strain Background, Kind of Mutation and Experimental Conditions

Linda Adler, Thomas Alter, Soroush Sharbati, Greta Gölz

High Resolution Melting Analysis: A Rapid and Accurate Method to Detect CALR Mutations

Cristina Bilbao-Sieyro, Guillermo Santana, [ ... ], Maria Teresa Gomez-Casares

Assembly of the Type Two Secretion System in Aeromonas hydrophila Involves Direct Interaction between the Periplasmic Domains of the Assembly Factor ExeB and the Secretin ExeD

Elizabeth M. Vanderlinde, Su Zhong, [ ... ], S. Peter Howard

Protein Variants Form a System of Networks: Microdiversity of IMP Metallo-Beta-Lactamases

Michael Widmann, Jürgen Pleiss

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